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Expression and Alternative Splicing of the Mouse Autoimmune Regulator Gene (Aire)

✍ Scribed by Qing-Guo Ruan; Cong-Yi Wang; Jing-Da Shi; Jin-Xiong She


Book ID
115621688
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
451 KB
Volume
13
Category
Article
ISSN
0896-8411

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APECED mutations in the autoimmune regul
✍ Maarit Heino; PΓ€rt Peterson; Jun Kudoh; Nobuyoshi Shimizu; Stylianos E. Antonara πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 336 KB

Autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED) is a rare recessively inherited disorder caused by mutations in the AIRE (autoimmune regulator) gene. APECED is characterized by variable combinations of endocrine autoimmune diseases such as Addisons disease, hypoparathyroidism